This case study presents the clinical course and management of an 18-year-old male patient diagnosed with very long fatty acid dehydrogenase deficiency (VLCADD). The patient exhibited recurrent episodes of rhabdomyolysis accompanied by acute kidney injury (AKI) and elevated liver enzymes. Presented to us by irritability and restlessness and 3 episodes of seizures. The purpose of this case study is to highlight the challenges in diagnosing and managing this rare metabolic disorder and to emphasize the importance of early recognition and intervention to prevent further complications.
| [1] | A. Boneh et al., “VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis,” Mol Genet Metab, vol. 88, no. 2, pp. 166–170, Jun. 2006.View Article PubMed |
| [2] | J. G. Loeber et al., “Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010,” International Journal of Neonatal Screening 2021, Vol. 7, Page 15, vol. 7, no. 1, p. 15, Mar. 2021. |
| [3] | M. Lindner, G. F. Hoffmann, and D. Matern, “Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting,” J Inherit Metab Dis, vol. 33, no. 5, pp. 521–526, Oct. 2010.View Article PubMed |
| [4] | U. Spiekerkoetter et al., “Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop,” J Inherit Metab Dis, vol. 32, no. 4, pp. 498–505, Aug. 2009.View Article PubMed |
| [5] | G. L. Arnold et al., “A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency,” Mol Genet Metab, vol. 96, no. 3, pp. 85–90, Mar. 2009.View Article PubMed |
| [6] | J. L. Merritt et al., “Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening,” Mol Genet Metab, vol. 111, no. 4, pp. 484–492, Apr. 2014.View Article PubMed |
| [7] | N. Leslie and S. Saenz-Ayala, “Very long-chain acyl-coenzyme A dehydrogenase deficiency,” 2022, Accessed: Mar. 05, 2024. [Online]. Available: https://europepmc.org/books/nbk6816 |
| [8] | I. J. Lawrence Merritt, M. Norris, and S. Kanungo, “Fatty acid oxidation disorders,” Ann Transl Med, vol. 6, no. 24, pp. 181–183, Apr. 2018.View Article PubMed |
| [9] | J. C. Bleeker et al., “Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency,” J Inherit Metab Dis, vol. 42, no. 1, pp. 159–168, Jan. 2019. |
| [10] | E. F. Diekman et al., “Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency,” Genet Med, vol. 17, no. 12, pp. 989–994, Dec. 2015.View Article PubMed |
| [11] | E. F. Diekman et al., “Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency,” Genetics in Medicine, vol. 17, no. 12, pp. 989–994, Dec. 2015.View Article PubMed |
| [12] | M. Evans, B. S. Andresen, J. Nation, and A. Boneh, “VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria,” Mol Genet Metab, vol. 118, no. 4, pp. 282–287, Aug. 2016.View Article PubMed |
| [13] | P. Ruiz-Sala and L. Peña-Quintana, “Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases,” J Clin Med, vol. 10, no. 21, 2021.View Article PubMed |